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  • Title: A novel DLL4 mutation in Adams-Oliver syndrome with absence of the right pulmonary artery in newborn.
    Author: Rojnueangnit K, Phawan T, Khetkham T, Techasatid W, Sirichongkolthong B.
    Journal: Am J Med Genet A; 2022 Feb; 188(2):658-664. PubMed ID: 34755929.
    Abstract:
    Adams-Oliver syndrome (AOS), a rare inherited disorder, is characterized by scalp and terminal limb defects. Several genes associated with Notch pathway mutations have led to AOS. Here, we report a Thai male newborn presenting with aplasia cutis congenita and absence of a right pulmonary artery, which is suggestive of AOS. This was confirmed by the identification of a novel missense mutation in DLL4, a heterozygous one base pair change at nucleotide 82 (c.82G>C, p.Gly28Arg), which is in N-terminal domain. This is the first DLL4-related AOS case with arterial defect.
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